List of variants studied for congenital myopathy by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)	rs192766485	0.00057
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	rs201692549	0.00054
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)	rs199606147	0.00019
NM_001267550.2(TTN):c.96904+4T>C	rs373514079	0.00014
NM_001164508.2(NEB):c.23742+2T>C	rs545937015	0.00006
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter)	rs779651314	0.00001
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer)	rs797044606
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)	rs150961139
NM_001267550.2(TTN):c.11311+1080del	rs58651353
NM_005262.3(GFER):c.199del (p.Arg67fs)	rs863224028
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs)	rs2043824248

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.